BRCA2 c.2139G>A ;(p.Q713=)

Variant ID: 13-32910631-G-A

NM_000059.3(BRCA2):c.2139G>A;(p.Q713=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine
Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A
Publication Date: 2021-11-09

Variant appearance in text: BRCA2: Gln713=
PubMed Link: 34749799
Variant Present in the following documents:
  • 13073_2021_976_MOESM1_ESM.pdf
View BVdb publication page



Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA2: Q713Q
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts.

Aging Cell
Narisu, Narisu N; Rothwell, Rebecca R; Vrtačnik, Peter P; Rodríguez, Sofía S; Didion, John J; Zöllner, Sebastian S; Erdos, Michael R MR; Collins, Francis S FS; Eriksson, Maria M
Publication Date: 2019-12

Variant appearance in text: BRCA2: 2139G>A; Q713Q
PubMed Link: 31385397
Variant Present in the following documents:
  • ACEL-18-e13010-s007.xlsx, sheet 1
View BVdb publication page